Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	8726
Gene name Gene Name - the full gene name approved by the HGNC.	Embryonic ectoderm development
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EED
Synonyms (NCBI Gene) Gene synonyms aliases	COGIS, HEED, WAIT1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	COGIS
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q14.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein interacts w

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1131692173	A>C,G	Pathogenic	Intron variant, synonymous variant, non coding transcript variant, missense variant, coding sequence variant
rs1131692174	C>T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1131692175	A>G	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1131692176	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all(86)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004086	hsa-miR-101-3p	Western blot	19008416
MIRT021689	hsa-miR-138-5p	Western blot;qRT-PCR	21770894
MIRT029750	hsa-miR-26b-5p	Microarray	19088304
MIRT048018	hsa-miR-30c-5p	CLASH	23622248
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718467	hsa-miR-3155a	HITS-CLIP	19536157
MIRT718466	hsa-miR-3155b	HITS-CLIP	19536157
MIRT718465	hsa-miR-484	HITS-CLIP	19536157
MIRT718464	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT718463	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT718462	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT718461	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT718460	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT718459	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT718458	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT718457	hsa-miR-3977	HITS-CLIP	19536157
MIRT718456	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT718455	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT718454	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT727802	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT727801	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT727799	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT727800	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT727798	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727797	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT048018	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727796	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727795	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718468	hsa-miR-483-3p	HITS-CLIP	19536157
MIRT718467	hsa-miR-3155a	HITS-CLIP	19536157
MIRT718466	hsa-miR-3155b	HITS-CLIP	19536157
MIRT718465	hsa-miR-484	HITS-CLIP	19536157
MIRT718464	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT718463	hsa-miR-412-3p	HITS-CLIP	19536157
MIRT718462	hsa-miR-6754-3p	HITS-CLIP	19536157
MIRT718461	hsa-miR-6837-3p	HITS-CLIP	19536157
MIRT718460	hsa-miR-3160-5p	HITS-CLIP	19536157
MIRT718459	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT718458	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT718457	hsa-miR-3977	HITS-CLIP	19536157
MIRT718456	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT718455	hsa-miR-4659a-3p	HITS-CLIP	19536157
MIRT718454	hsa-miR-4659b-3p	HITS-CLIP	19536157
MIRT952951	hsa-miR-101	CLIP-seq
MIRT952952	hsa-miR-181a	CLIP-seq
MIRT952953	hsa-miR-181b	CLIP-seq
MIRT952954	hsa-miR-181c	CLIP-seq
MIRT952955	hsa-miR-181d	CLIP-seq
MIRT952956	hsa-miR-186	CLIP-seq
MIRT952957	hsa-miR-3065-5p	CLIP-seq
MIRT952958	hsa-miR-30a	CLIP-seq
MIRT952959	hsa-miR-30b	CLIP-seq
MIRT952960	hsa-miR-30c	CLIP-seq
MIRT952961	hsa-miR-30d	CLIP-seq
MIRT952962	hsa-miR-30e	CLIP-seq
MIRT952963	hsa-miR-323-3p	CLIP-seq
MIRT952964	hsa-miR-34c-3p	CLIP-seq
MIRT952965	hsa-miR-3941	CLIP-seq
MIRT952966	hsa-miR-4262	CLIP-seq
MIRT952967	hsa-miR-4303	CLIP-seq
MIRT952968	hsa-miR-4468	CLIP-seq
MIRT952969	hsa-miR-4477a	CLIP-seq
MIRT952970	hsa-miR-4495	CLIP-seq
MIRT952971	hsa-miR-4645-3p	CLIP-seq
MIRT952972	hsa-miR-466	CLIP-seq
MIRT952973	hsa-miR-4672	CLIP-seq
MIRT952974	hsa-miR-4735-5p	CLIP-seq
MIRT952975	hsa-miR-4775	CLIP-seq
MIRT952976	hsa-miR-495	CLIP-seq
MIRT952977	hsa-miR-499-3p	CLIP-seq
MIRT952978	hsa-miR-499a-3p	CLIP-seq
MIRT952979	hsa-miR-513a-3p	CLIP-seq
MIRT952980	hsa-miR-520d-5p	CLIP-seq
MIRT952981	hsa-miR-524-5p	CLIP-seq
MIRT952982	hsa-miR-590-3p	CLIP-seq
MIRT952983	hsa-miR-603	CLIP-seq
MIRT952984	hsa-miR-7	CLIP-seq
MIRT952985	hsa-miR-936	CLIP-seq
MIRT952986	hsa-miR-3691-3p	CLIP-seq
MIRT952987	hsa-miR-548aa	CLIP-seq
MIRT952970	hsa-miR-4495	CLIP-seq
MIRT952974	hsa-miR-4735-5p	CLIP-seq
MIRT952975	hsa-miR-4775	CLIP-seq
MIRT952982	hsa-miR-590-3p	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0001226	Function	RNA polymerase II transcription corepressor binding	IPI	29628311
GO:0005515	Function	Protein binding	IPI	16357870, 17041588, 17560333, 20075857, 20080539, 20543829, 21078963, 22009739, 22094255, 22439931, 22897849, 23238014, 24981860, 26496610, 27705803, 28229514, 29628311, 30021884
GO:0005634	Component	Nucleus	NAS	9584199
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006342	Process	Chromatin silencing	IBA	21873635
GO:0016032	Process	Viral process	IEA
GO:0031491	Function	Nucleosome binding	IBA	21873635
GO:0035098	Component	ESC/E(Z) complex	IBA	21873635
GO:0035098	Component	ESC/E(Z) complex	IDA	15385962, 20075857, 23104054, 23273982
GO:0042054	Function	Histone methyltransferase activity	IDA	15385962
GO:0042054	Function	Histone methyltransferase activity	IMP	28229514
GO:0042802	Function	Identical protein binding	IPI	11124122
GO:0045814	Process	Negative regulation of gene expression, epigenetic	TAS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	NAS	9584199
GO:0046976	Function	Histone methyltransferase activity (H3-K27 specific)	IBA	21873635
GO:0046976	Function	Histone methyltransferase activity (H3-K27 specific)	IMP	28229514
GO:0070317	Process	Negative regulation of G0 to G1 transition	TAS
GO:0070734	Process	Histone H3-K27 methylation	IEA

MIM	HGNC	e!Ensembl
605984	3188	ENSG00000074266

Protein

UniProt ID

O75530

Protein name

Polycomb protein EED (hEED) (Embryonic ectoderm development protein) (WD protein associating with integrin cytoplasmic tails 1) (WAIT-1)

Protein function

Polycomb group (PcG) protein. Component of the PRC2/EED-EZH2 complex, which methylates 'Lys-9' and 'Lys-27' of histone H3, leading to transcriptional repression of the affected target gene. Also recognizes 'Lys-26' trimethylated histone H1 with

PDB

3IIW , 3IIY , 3IJ0 , 3IJ1 , 3IJC , 3JPX , 3JZG , 3JZH , 3JZN , 3K26 , 3K27 , 4W2R , 4X3E , 5GSA , 5H13 , 5H14 , 5H15 , 5H17 , 5H19 , 5H24 , 5H25 , 5HYN , 5IJ7 , 5IJ8 , 5K0M , 5LS6 , 5TTW , 5U5H , 5U5K , 5U5T , 5U62 , 5U69 , 5U6D , 5U8A , 5U8F , 5WG6 , 5WP3 , 5WUK , 6B3W , 6C23 , 6C24 , 6LO2 , 6SFB , 6SFC , 6U4Y , 6V3X , 6V3Y , 6W7F , 6W7G , 6WKR , 6YVI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	180 → 219	WD domain, G-beta repeat	Repeat
PF00400	WD40	225 → 264	WD domain, G-beta repeat	Repeat

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, colon, heart, kidney, liver, lung, muscle, ovary, peripheral blood leukocytes, pancreas, placenta, prostate, spleen, small intestine, testis, thymus and uterus. Appears to be overexpressed in breast and colon cancer

Sequence

MSEREVSTAPAGTDMPAAKKQKLSSDENSNPDLSGDENDDAVSIESGTNTERPDTPTNTP
NAPGRKSWGKGKWKSKKCKYSFKCVNSLKEDHNQPLFGVQFNWHSKEGDPLVFATVGSNR
VTLYECHSQGEIRLLQSYVDADADENFYTCAWTYDSNTSHPLLAVAGSRGIIRIINPITM
QCIKHYVGHGNAINELKFHPRDPNLLLSVSKDHALRLWNIQTDTLVAIFGGVEGHRDEVL
SADYDLLGEKIMSCGMDHSLKLWRINSKRMMNAIKESYDYNPNKTNRPFISQKIHFPDFS
TRDIHRNYVDCVRWLGDLILSKSCENAIVCWKPGKMEDDIDKIKPSESNVTILGRFDYSQ
CDIWYMRFSMDFWQKMLALGNQVGKLYVWDLEVEDPHKAKCTTLTHHKCGAAIRQTSFSR
DSSILIAVCDDASIWRWDRLR

Sequence length

441

Interactions

View interactions

	KEGG		Reactome
	Polycomb repressive complex		PRC2 methylates histones and DNA Oxidative Stress Induced Senescence PKMTs methylate histone lysines Regulation of PTEN gene transcription Transcriptional Regulation by E2F6 HCMV Early Events

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Cohen-gibson syndrome	COHEN-GIBSON SYNDROME	rs1131692173, rs1131692174, rs1131692175, rs1131692176, rs1565706229, rs1593776227	27193220, 28475857, 28229514, 27868325, 25787343
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Schwannomatosis	Schwannomatosis, Plexiform	rs121434496, rs587777180, rs189150283, rs1460026299, rs149850248, rs1555927561, rs148031742	25119042
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Weaver syndrome	Weaver syndrome	rs193921146, rs193921147, rs193921148, rs397515548, rs587783627, rs587783626, rs587783625, rs797045568, rs1060503430, rs1131692184, rs1563181659, rs1584862620, rs1584862929, rs1584875099, rs1584844589	28229514

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Weaver Syndrome	Weaver syndrome	GenCC

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining
Anemia Aplastic	Associate	36635771
Arthritis Rheumatoid	Associate	36969166
Breast Neoplasms	Associate	23251464
Cholangiocarcinoma	Associate	24089088
Colitis Ulcerative	Associate	23709348
Colorectal Neoplasms	Associate	23709348, 26567139
Gastritis Atrophic	Associate	30249557
GATA2 Deficiency	Associate	26337274
Glioblastoma	Associate	34266885
Hereditary leiomyomatosis and renal cell cancer	Associate	14982841
Infratentorial Neoplasms	Associate	29909548
Intestinal Diseases	Stimulate	30249557
Leukemia Myeloid Acute	Associate	35747989
Lymphatic Metastasis	Associate	23251464, 23709348
Lymphoma Non Hodgkin	Associate	37161535
Medulloblastoma	Associate	36635771
Mitochondrial Diseases	Associate	30404791
Myelodysplastic Syndromes	Associate	31680297
Neoplasms	Associate	23251464, 23709348, 23974116, 29681499, 32666581, 34266885, 36941558
Neoplasms	Inhibit	36858198
Neuroblastoma	Associate	29202477, 35636260
Neurofibrosarcoma	Associate	25240281, 26645727, 26990975, 28752843, 28762137, 29482987, 30291346, 32666581
Ovarian Neoplasms	Associate	36941558
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237106, 30404791
Prostatic Neoplasms	Associate	15817459
Rectal Neoplasms	Associate	23709348
Simpson Golabi Behmel syndrome	Associate	28475857
Stomach Neoplasms	Associate	30249557
Tertiary Lymphoid Structures	Associate	23251464, 23709348
Weaver syndrome	Associate	29681499

EED (embryonic ectoderm development)